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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients with Craniosynostosis, Limb Reductions, and ESCO2 Mutations

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Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients with Craniosynostosis, Limb Reductions, and ESCO2 Mutations CASE REPORT published: 28 May 2019 doi: 10.3389/fped.2019.00210 Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations Elisa Adele Colombo 1*, Hatice Mutlu-Albayrak 2, Yousef Shafeghati 3, Mine Balasar 4, Juliette Piard 5, Davide Gentilini 6,7, Anna Maria Di Blasio 6, Cristina Gervasini 1, Lionel Van Maldergem 5 and Lidia Larizza 8 1 Genetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy, 2 Department of Pediatric Genetics, Cengiz Gökcek Maternity and Children’s Hospital, Gaziantep, Turkey, 3 Sarem Cell Research Center and Medical Genetics Department, Sarem Women Hospital, Tehran, Iran, 4 Department of Medical Genetics, Meram Medical Edited by: Faculty, Necmettin Erbakan University, Konya, Turkey, 5 Centre de génétique humaine CHU, Université de Franche-Comté, Nagwa Elsayed Afify Gaboon, Besançon, France, 6 Laboratorio di Biologia Molecolare, Istituto Auxologico Italiano, IRCCS, Milan, Italy, 7 Department of Brain Ain Shams University, Egypt and Behavioral Sciences, University of Pavia, Pavia, Italy, 8 Laboratorio di Citogenetica e Genetica Molecolare Umana, Istituto Reviewed by: Auxologico Italiano, IRCCS, Milan, Italy Alistair Duncan Calder, Great Ormond Street Hospital, United Kingdom Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are Nermine Salah Eldine Elsayed, rare autosomal recessive disorders caused, respectively, by biallelic alterations in Ain Shams University, Egypt RECQL4 (MIM∗603780) and ESCO2 (MIM∗609353) genes. Common features are severe *Correspondence: Elisa Adele Colombo growth retardation, limbs shortening and craniofacial abnormalities which may include [email protected] craniosynostosis. We aimed at unveiling the genetic lesions underpinning the phenotype of two unrelated children with a presumptive BGS diagnosis: patient 1 is a Turkish girl with Specialty section: This article was submitted to short stature, microcephaly, craniosynostosis, seizures, intellectual disability, midface Genetic Disorders, hemangioma, bilateral radial and thumb aplasia, tibial hypoplasia, and pes equinovarus. a section of the journal Patient 2 is an Iranian girl born to consanguineous parents with craniosynostosis, Frontiers in Pediatrics micrognathism, bilateral radial aplasia, thumbs, and foot deformity in the context of Received: 22 November 2018 Accepted: 08 May 2019 developmental delay. Upon negative RECQL4 test, whole exome sequencing (WES) Published: 28 May 2019 analysis performed on the two trios led to the identification of two different ESCO2 Citation: homozygous inactivating variants: a previously described c.1131+1G>A transition in Colombo EA, Mutlu-Albayrak H, Shafeghati Y, Balasar M, Piard J, patient 1 and an unreported deletion, c.417del, in patient 2, thus turning the diagnosis Gentilini D, Di Blasio AM, Gervasini C, into Roberts syndrome. The occurrence of a Baller-Gerold phenotype in two unrelated Van Maldergem L and Larizza L (2019) patients that were ultimately diagnosed with RBS demonstrates the strength of WES Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two in redefining the nosological landscape of rare congenital malformation syndromes, Patients With Craniosynostosis, Limb a premise to yield optimized patients management and family counseling. Reductions, and ESCO2 Mutations. Front. Pediatr. 7:210. Keywords: Roberts syndrome, Baller-Gerold syndrome, RECQL4, ESCO2, patient management, genetic doi: 10.3389/fped.2019.00210 counseling, differential diagnosis Frontiers in Pediatrics | www.frontiersin.org 1 May 2019 | Volume 7 | Article 210 Colombo et al. From Baller-Gerold to Roberts Syndrome BACKGROUND Biallelic pathogenic variants in ESCO2 (establishment of cohesion 1 homolog 2; OMIM∗609353) gene located at 8p21.1, Baller-Gerold syndrome (BGS, OMIM#218600) (1) and have been identified in RBS and SC Phocomelia (2). ESCO2 Roberts syndrome (RBS, OMIM#268300) (2) are two rare encodes an acetyltransferase of the cohesion establishing autosomal recessive congenital disorders with clinical overlap complex involved in sister chromatids cohesion during DNA and a broad phenotypic variability. replication and double-strand breaks repair (16). No genotype- The major clinical findings of BGS involve the skeleton: all phenotype correlation has been established so far. A variable patients display craniosynostosis of any or all cranial sutures clinical presentation between sibs, including both RBS and and pre-axial upper limb defects, mainly hypoplasia/aplasia SC Phocomelia phenotypes, suggests that modifier genes and of radii, ulnae, and/or thumbs and malformation or absence epigenetic factors contribute to this uncommon variability of some carpal and metacarpal bones. The spectrum of BGS among autosomal recessive disorders (2). Mildly affected manifestations includes also growth delay, anomalies of lower children are probably overrepresented in the published clinical limbs (absent patellae, genu valgum, club feet), imperforate or descriptions since they are more likely to survive and to come to anteriorly placed anus, rectovaginal fistula, renal and cardiac medical attention. (tetralogy of Fallot, ventricular septal defects) malformations, We herein report on two unrelated cases of RBS who were skin alterations (poikiloderma, hyper- and hypopigmentation, first clinically diagnosed as BGS and, upon negative RECQL4 hemangioma, nevus flammeus), facial dysmorphisms test, were found by whole exome sequencing (WES) to harbor (telecanthus, malpositioned ears, prominent/depressed nasal homozygous mutations in ESCO2 gene. One of the observed bridge, high-arched/cleft palate, micrognathia), and occasionally variants, yet unreported, expands ESCO2 mutational spectrum. intellectual disability. Many BGS patients die within the first year of life and a few may develop malignancies early in life (3, 4). CASE PRESENTATION About 70 clinically diagnosed BGS patients are reported in the literature but, subsequently to further in-depth analysis, We describe two affected patients of two unrelated families a different diagnosis has been formulated for almost 20 of (1 and 2) with a syndromic phenotype suggestive of BGS them (3, 5–9). To date, biallelic alterations in RECQL4 gene referred to our laboratory by clinical geneticists and pediatricians. ∗ (OMIM 603780), encoding a protein of the RECQ helicase Appropriate written informed consent to genetic analysis and family with multiple functions in the maintenance of genome authorization to photos collection were obtained from the integrity, have been found in a subgroup of 11 BGS patients parents of the patients for the publication of the case report from 7 families (1, 4, 10–12). To note, 4 out of 5 BGS patients, and any potentially-identifying information/images. The study who could be evaluated, present with poikiloderma, a chronic protocol was approved by the Research Ethics Board of Istituto cutaneous alteration manifesting in the first years of life in most Auxologico Italiano, Milan, Italy. of the RECQL4-mutated patients (4, 10, 11). Roberts syndrome, which includes SC Phocomelia syndrome Clinical Report of Family 1 (OMIM#269000), is a multiple malformation syndrome (2) Proband 1 is the second child of Turkish parents originating from described in at least 230 patients belonging to 167 different the same geographical area. She was born in 2005 at full-term families. Its main clinical features include severe pre- and after an uneventful pregnancy and presented with mesomelic post-natal growth retardation, symmetrical tetra-limb reduction shortening of limbs and bilateral thumb aplasia. She has an elder of various degree (usually more severe in upper limbs) associated brother who suffered from epilepsy, motor delay and intellectual to skeletal defects including absence or reduction in length of disability, and a 1-year-old sister who had an epileptic attack at8 humeri, radii and thumbs, ulna deformity, oligodactyly, and months of age (Figure 1A). neurological signs, such as mild to severe intellectual disability Early in infancy, bilateral corneal clouding was noted and and seizures. Craniofacial dysmorphisms (hypertelorism, cleft surgically removed. Due to eye proptosis and cranial deformity, lip, cleft palate, nose and ears anomalies), microcephaly, facial she underwent a skull radiograph and CT scan that indicated hemangioma, congenital heart defects, polycystic or dysplastic sagittal and coronal premature fusion. She manifested motor and kidneys, and enlarged genitalia are frequently observed in RBS developmental delay. Language was delayed and limited to a few patients. The most severe phenotypes usually lead to fetal death words without the ability to construct sentences. or in the first months of life. SC Phocomelia is considered Generalized seizures, responsive to levetiracetam, occurred the mild clinical variant of RBS (13) and is characterized when she was 8-year old; her height was at −8.5 SD (80cm), by mild symmetric limb reductions, joint contractures, weight at −4.8 SD (10kg), and OFC at −7 SD (43 cm). microcephaly, midfacial hemangioma, cloudy corneas, and On clinical examination at 12 years, she could not follow an mild or borderline intellectual disability. Survival to adulthood is object with her eyes nor speak or respond to questions. Facial common (14). dysmorphisms included low anterior and posterior hairlines, At the cellular level, the chromosomal instability hallmark arched eyebrows, telecanthus,
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